General1 Marie-Claude
a. Figure
1.
Miron,
Lateral
views
. HISTORY A 36-year-old white pain and recurrent several
years
no history revealed
Indexterms:
the
1990
(a) and
man with polyarticular swelling of both knees
duration
Bones, 1990; Department
RSNA scientific C RSNA, 1990
July
of the cervical
G. Dussault,
was
examined.
assembly.
diseases,
40.1891
MD
lumbar
(b)
of
and
#{149} Ehlers-Danlossyndrome.
#{149} Pierre
Robillard,
MD
b. spine.
elbows, flexune of the night elbow joint, and arthrosis deformity of the knees. Results of laboratory tests were normal. Radiography of the hands, wrists, shouldens, cervical and lumbar spine, pelvis, and knees was performed (Figs 1-3).
He had
of trauma. Physical examination wrinkled scarring of the knees
RadioGraphics , From
Robert #{149}
MD
30.1891,
40.1891
Spine.
#{149}
diseases,
30.1891
10:735-738 of Radiology, Received
H#{244}tel.Dieu and
accepted
de Montr#{233}al, 3840 October
3, 1989.
Rue Address
St Urbain, reprint
Montreal, requests
Miron
Que. to
Canada
H2W
1T8.
From
the
1989
R.G.D.
et al
#{149} RadioGrapbics
I
735
I
FINDINGS
The radiographic wrists, and pelvis
appearance was normal.
The cervical spine, sella tuncica appeared
radiograph
of the
of the hands,
mandibular normal
lumbar
(Fig
spine
angle, ia)
(Fig
.
and The
1 b) me-
vealed spondylolysis with minimal spondylolisthesis at L5-Si Both shoulders were involved with osteoarthrosis (Fig 2). Radiographs of the left knee revealed a round, soft-tissue calcification on the medial .
aspect of the 3a, 3b) Both .
deformity
with
and
loose
femur, knees
with a joint effusion showed some flexural
hypertrophic
bodies
within
There was no subluxation, and no chondrocalcinosis.
(Fig
osteoarthrosis
the joint
(Fig
3).
no fragmentation,
a.
2. Antenopostenion and left (b) shoulders. Figure
736
#{149} RadioGraphics
#{149} Miron
et al
views
of the right
(a)
Volume
10
Number
4
. .
;. ‘-:.i.’i .:
1fr
Figure
July
1990
3.
Anteropostenior
and
lateral
views
of the left (a, b) and right
Miron
(C,
d) knees.
et al
U
Ra4ioGrapbics
U
737
DIAGNOSIS: III)
Ehlers-Danlos
syndrome
(type
of skeletal overgrowth, features not seen in Ehlers-Danlos syndrome. CPPD arthropathy may be accompanied by chondrocalcinosis, which may also be found in Ehler-Danlos syndrome. The articular and intraarticular distribution, presence of subchondmal cysts, and variable osteophyte formations are distinguishing features of CPPD arthropathy. Hemophilic arthropathy is manifested by de-
U DISCUSSION The Ehlers-Danlos syndrome comprises a group of inherited connective tissue disordens characterized by abnormal collagen synthesis (1) It is manifested clinically by skin hyperelasticity and fragility, joint hypemmobility, and blood vessel fragility with bleed.
ing diathesis.
Ten
types
have
been
generative
described;
they differ clinically, biochemically, and genetically (1,2). Ehlers-Danlos syndrome type III, or benign familial hypenmobility syndrome, has an autosomal dominant pattern of inheritance.
There is no racial The predominant
or ethnic predisposition. characteristic of type
III
Ehlers-Danlos syndrome is joint hypemmobility. Other clinical manifestations include skin hyperextensibility, poor wound healing with abnormal scarring, and blood vessel fragility manifested by easy bruising (3-6). With advancing age, patients may have contractumes and the skin may become stiffer.
The
diagnosis
of Ehlems-Danlos
made on clinical nomonic laboratory
pathologic phologic
grounds; test
features collagen
and
syndrome
momat
electron microscopic examination are subtle and consist of variations in fibmil diameter, fibnil disarray, and occasional composite fibnils (3). Radiographic findings are numerous (6). Soft-tissue calcifications are found in the peniarticulan areas and in the extremities. They may represent calcified fatty spherules (Fig 1 a) or calcifications of a molluscoid tumom, a hematoma, or myositis ossificans. Re-
current
or persistent
or hemarthnosis ment, subluxation,
may
the hypenmobility
joint
or bursal
be present. on dislocation
of the joint
emative
dihydrate arthnopathy, athy, and
ed with
738
an enlarged
#{149}RadioGrapbics
sella
turcica
1969;
3.
#{149}Miron
hemophilic neuroarthmopis associat-
et al
and
calcification.
28:228-24
5.
Holzberg M, Hewan-Lowe KO, Olansky The Ehlers-Danlos syndrome: recognition, characterization,
and
importance
variant
of the classic form-a study. J Am Acad Dermatol
AJ.
of a milder
preliminary 1 988; 19:656-
4.
Watt NA, Hooper G. Skeletal changes in the hand in the Ehlers-Danlos syndrome. J Hand
5.
Beighton P, Horan of the Ehlers-Danlos
6.
Maroteaux
Surg[Br]
1987;
Surg[BrJ
1969;
lagen Resnick
F.
Orthopaedic aspects syndrome. J Bone Joint
51:444-453.
J, Cohen-Solal
symptomatology
metabolism:
AmJMedGenet
7.
12:394-395.
P, Pniezal
differential
8.
and
disease
.
to
may be seen
pyrophosphate
(CPPD) arthmopathy, Manfan syndrome, ochnonosis. Acromegaly
disk
U REFERENCES 1 Tsipouras P, Ramirez F. Genetic disorders ofcollagen.J Med Genet 1987; 24:2-8. 2. Beighton P, Price A, LordJ, et al. Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological, and chromosomal features of 1 00 patients. Am Rheum Dis
.
calcium
the an-
666.
on stress radiognaphs. Precocious osteoarthnosis, predominant in the knees, is a frequent manifestation. Chondrocalcinosis may be associated with the osteoarthrosis (7,8) Kyphoscoliosis, spondylolysis, spondylolisthesis, thorax deformities, and pes planus may also be noted. The differential diagnoses include diseases associated with precocious osteoarthmosis:
acromegaly,
affecting
These features were absent in our patient. The distinguishing characteristics of neunoarthmopathy include monoarticular on ohgoarticulam distribution, malalignment, bone fragmentation, and osteophyte formation (in hypertnophic neuroarthropathy) Ochnonosis predominantly affects the spine, with degen-
effusion
Malalignrelated
usually
.
is
there is no pathogno specific
in most types. The abnormalities noted
changes
kle, knee, and elbow, with hemarthrosis or synovial thickening, uniform narrowing of the joint space, and subchondral cyst fommation. Epiphyseal overgrowth or premature fusion may also be present. Mamfan syndrome is usually associated with arachnodactyly in the hands and feet, muscular atrophy, and minimal subcutaneous fat. Scoliosis occurs in 40%-60% of cases of Manfan syndrome.
of errors
a tentative 1986;
D, Niwayama
L.
The of col-
classification.
24:219-230.
G.
Diagnosis
of bone
and joint disorders. 2nd ed. Philadelphia: Saunders, 1988; 3385-3389. Bird HA, Tribe CR, Bacon PA. Joint hypermobility leading to osteoarthnosis and chon-
drocalcinosis. 203-2 11.
Ann Rheum
Dis 1978;
37:
Volume
10
features
Number
4
a. Figure
1.
Miron,
Lateral
views
. HISTORY A 36-year-old white pain and recurrent several
years
no history revealed
Indexterms:
the
1990
(a) and
man with polyarticular swelling of both knees
duration
Bones, 1990; Department
RSNA scientific C RSNA, 1990
July
of the cervical
G. Dussault,
was
examined.
assembly.
diseases,
40.1891
MD
lumbar
(b)
of
and
#{149} Ehlers-Danlossyndrome.
#{149} Pierre
Robillard,
MD
b. spine.
elbows, flexune of the night elbow joint, and arthrosis deformity of the knees. Results of laboratory tests were normal. Radiography of the hands, wrists, shouldens, cervical and lumbar spine, pelvis, and knees was performed (Figs 1-3).
He had
of trauma. Physical examination wrinkled scarring of the knees
RadioGraphics , From
Robert #{149}
MD
30.1891,
40.1891
Spine.
#{149}
diseases,
30.1891
10:735-738 of Radiology, Received
H#{244}tel.Dieu and
accepted
de Montr#{233}al, 3840 October
3, 1989.
Rue Address
St Urbain, reprint
Montreal, requests
Miron
Que. to
Canada
H2W
1T8.
From
the
1989
R.G.D.
et al
#{149} RadioGrapbics
I
735
I
FINDINGS
The radiographic wrists, and pelvis
appearance was normal.
The cervical spine, sella tuncica appeared
radiograph
of the
of the hands,
mandibular normal
lumbar
(Fig
spine
angle, ia)
(Fig
.
and The
1 b) me-
vealed spondylolysis with minimal spondylolisthesis at L5-Si Both shoulders were involved with osteoarthrosis (Fig 2). Radiographs of the left knee revealed a round, soft-tissue calcification on the medial .
aspect of the 3a, 3b) Both .
deformity
with
and
loose
femur, knees
with a joint effusion showed some flexural
hypertrophic
bodies
within
There was no subluxation, and no chondrocalcinosis.
(Fig
osteoarthrosis
the joint
(Fig
3).
no fragmentation,
a.
2. Antenopostenion and left (b) shoulders. Figure
736
#{149} RadioGraphics
#{149} Miron
et al
views
of the right
(a)
Volume
10
Number
4
. .
;. ‘-:.i.’i .:
1fr
Figure
July
1990
3.
Anteropostenior
and
lateral
views
of the left (a, b) and right
Miron
(C,
d) knees.
et al
U
Ra4ioGrapbics
U
737
DIAGNOSIS: III)
Ehlers-Danlos
syndrome
(type
of skeletal overgrowth, features not seen in Ehlers-Danlos syndrome. CPPD arthropathy may be accompanied by chondrocalcinosis, which may also be found in Ehler-Danlos syndrome. The articular and intraarticular distribution, presence of subchondmal cysts, and variable osteophyte formations are distinguishing features of CPPD arthropathy. Hemophilic arthropathy is manifested by de-
U DISCUSSION The Ehlers-Danlos syndrome comprises a group of inherited connective tissue disordens characterized by abnormal collagen synthesis (1) It is manifested clinically by skin hyperelasticity and fragility, joint hypemmobility, and blood vessel fragility with bleed.
ing diathesis.
Ten
types
have
been
generative
described;
they differ clinically, biochemically, and genetically (1,2). Ehlers-Danlos syndrome type III, or benign familial hypenmobility syndrome, has an autosomal dominant pattern of inheritance.
There is no racial The predominant
or ethnic predisposition. characteristic of type
III
Ehlers-Danlos syndrome is joint hypemmobility. Other clinical manifestations include skin hyperextensibility, poor wound healing with abnormal scarring, and blood vessel fragility manifested by easy bruising (3-6). With advancing age, patients may have contractumes and the skin may become stiffer.
The
diagnosis
of Ehlems-Danlos
made on clinical nomonic laboratory
pathologic phologic
grounds; test
features collagen
and
syndrome
momat
electron microscopic examination are subtle and consist of variations in fibmil diameter, fibnil disarray, and occasional composite fibnils (3). Radiographic findings are numerous (6). Soft-tissue calcifications are found in the peniarticulan areas and in the extremities. They may represent calcified fatty spherules (Fig 1 a) or calcifications of a molluscoid tumom, a hematoma, or myositis ossificans. Re-
current
or persistent
or hemarthnosis ment, subluxation,
may
the hypenmobility
joint
or bursal
be present. on dislocation
of the joint
emative
dihydrate arthnopathy, athy, and
ed with
738
an enlarged
#{149}RadioGrapbics
sella
turcica
1969;
3.
#{149}Miron
hemophilic neuroarthmopis associat-
et al
and
calcification.
28:228-24
5.
Holzberg M, Hewan-Lowe KO, Olansky The Ehlers-Danlos syndrome: recognition, characterization,
and
importance
variant
of the classic form-a study. J Am Acad Dermatol
AJ.
of a milder
preliminary 1 988; 19:656-
4.
Watt NA, Hooper G. Skeletal changes in the hand in the Ehlers-Danlos syndrome. J Hand
5.
Beighton P, Horan of the Ehlers-Danlos
6.
Maroteaux
Surg[Br]
1987;
Surg[BrJ
1969;
lagen Resnick
F.
Orthopaedic aspects syndrome. J Bone Joint
51:444-453.
J, Cohen-Solal
symptomatology
metabolism:
AmJMedGenet
7.
12:394-395.
P, Pniezal
differential
8.
and
disease
.
to
may be seen
pyrophosphate
(CPPD) arthmopathy, Manfan syndrome, ochnonosis. Acromegaly
disk
U REFERENCES 1 Tsipouras P, Ramirez F. Genetic disorders ofcollagen.J Med Genet 1987; 24:2-8. 2. Beighton P, Price A, LordJ, et al. Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological, and chromosomal features of 1 00 patients. Am Rheum Dis
.
calcium
the an-
666.
on stress radiognaphs. Precocious osteoarthnosis, predominant in the knees, is a frequent manifestation. Chondrocalcinosis may be associated with the osteoarthrosis (7,8) Kyphoscoliosis, spondylolysis, spondylolisthesis, thorax deformities, and pes planus may also be noted. The differential diagnoses include diseases associated with precocious osteoarthmosis:
acromegaly,
affecting
These features were absent in our patient. The distinguishing characteristics of neunoarthmopathy include monoarticular on ohgoarticulam distribution, malalignment, bone fragmentation, and osteophyte formation (in hypertnophic neuroarthropathy) Ochnonosis predominantly affects the spine, with degen-
effusion
Malalignrelated
usually
.
is
there is no pathogno specific
in most types. The abnormalities noted
changes
kle, knee, and elbow, with hemarthrosis or synovial thickening, uniform narrowing of the joint space, and subchondral cyst fommation. Epiphyseal overgrowth or premature fusion may also be present. Mamfan syndrome is usually associated with arachnodactyly in the hands and feet, muscular atrophy, and minimal subcutaneous fat. Scoliosis occurs in 40%-60% of cases of Manfan syndrome.
of errors
a tentative 1986;
D, Niwayama
L.
The of col-
classification.
24:219-230.
G.
Diagnosis
of bone
and joint disorders. 2nd ed. Philadelphia: Saunders, 1988; 3385-3389. Bird HA, Tribe CR, Bacon PA. Joint hypermobility leading to osteoarthnosis and chon-
drocalcinosis. 203-2 11.
Ann Rheum
Dis 1978;
37:
Volume
10
features
Number
4
